Varaico: Literature-Extracted Genetic Variants

AFF3

204 papers

RefSeq Summary

This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 g...

Pfam Domains

AF-4aa 20–173UCSCAF-4 proto-oncoprotein N-terminal region

AF-4aa 161–473UCSCAF-4 proto-oncoprotein N-terminal region

AF4_intaa 766–779UCSCAF4 interaction motif

AFF4_CHDaa 959–1226UCSCAFF4, C-terminal homology domain

Gene Aliases

HGNC Name

ALF transcription elongation factor 3

HGNC Previous Symbol

LAF4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001386135.1

p.A596T

c.1786G>A

Surrounding Variants

2 papers

NM_001386135.1

p.T594_S595delFs

c.1781_1785del5

1 paper

NM_001386135.1

p.S595*

c.1784C>G

1 paper

NM_001386135.1

p.A596fs

c.1786_1787fs

1 paper

NM_001386135.1

p.S595*

c.1784C>A

1 paper

NM_001386135.1

p.G597R

c.1789G>A

2 papers

NM_001386135.1

p.A596delFs

c.1788delG

3 papers

NM_001386135.1

p.S595_A596del0

c.1783_1788del6

1 paper

NM_001386135.1

p.T594fs

c.1780_1781fs

1 paper

NM_001386135.1

p.T594I

c.1781C>T

8 papers

NM_001386135.1

p.T594S

c.1781C>G

1 paper

NM_001386135.1

p.T594fs

c.1780_1781fs

1 paper

NM_001386135.1

p.D598fs

c.1792_1793fs